Updates

October 22, 2018October 22, 2018
DNA Sequencing Technique Identifies Two New Mutations in Patient with Simplex and Junctional EB

A technique used to decipher the DNA sequence, called next-generation sequencing (NGS), was successfully used to identify two new mutations in a patient diagnosed ... Read more
October 17, 2018October 17, 2018
First RDEB Adult Patients Do Well in Clinical Trial with Gene Therapy KB103

The first two adults with recessive dystrophic epidermolysis bullosa (RDEB) treated with the topical gene therapy candidate KB103 experienced increased levels of functional human collagen ... Read more
October 10, 2018October 10, 2018
Advocacy Groups, Doctors Question Rising Prices of Rare Disease Treatments

Half a year has gone by since disgraced pharma executive Martin Shkreli was sentenced to seven years in federal prison for securities and wire ... Read more
October 8, 2018October 8, 2018
Gene Editing Corrects Mutation Causing Recessive Dystrophic Epidermolysis Bullosa, Study Reports

A new gene-editing approach can repair a mutation responsible for recessive dystrophic epidermolysis bullosa (RDEB) in a patient’s tissue. A full description of the ... Read more
October 3, 2018October 3, 2018
Calcipotriol Ointment Seen to Improve Wound Healing in RDEB Patient, Study Finds

A low dose of calcipotriol, which is already approved for the treatment of psoriasis, may improve healing and prevent wound infections in patients with recessive ... Read more

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News

Fibrocell Awarded $1.4M from FDA to Advance FCX-007 in Clinical Trials for RDEB
September 26, 2018September 26, 2018
Fibrocell received $1.4 million from the U.S. Food and Drug Administration’s Office of Orphan Products ...
News

#NORDSummit – More Than 700 Expected to Attend Oct. 15-16 Rare Disease Summit in Washington
September 24, 2018September 24, 2018
More than 700 medical experts, pharmaceutical executives, patient advocates, and others are expected to ...
News

Dad Who Lost Baby to EB Nears Final Stretch in ‘Big Ride’ to Raise Money to Combat Disease
September 24, 2018September 24, 2018
Despite broken bones and all manner of inclement weather, Robb Freed is seven months ...
News

Specific Enzymes Cause Mutations That Fuel Aggressive Skin Cancer in Patients With RDEB, Study Shows
September 19, 2018September 19, 2018
A family of enzymes with genome-editing function to enhance immune system responses are driving ...
News

Amryt’s AP101 for Treating EB Receives IND Clearance from FDA
September 12, 2018September 12, 2018
U.S. residents with some types of inherited epidermolysis bullosa (EB) can now participate in Amryt ...
News

RDEB Is Main Suspect Behind SCC, a Rare Form of Skin Cancer, Study Shows
September 10, 2018September 10, 2018
A recent study using technology that powers NantOmics‘ comprehensive GPS Cancer test confirmed that chronic ...

2 EB Research Groups Based Continents Apart Partner to Advance New Treatments
September 5, 2018September 5, 2018
New York-based EB Research Partnership (EBRP), along with the EB Research Foundation in Australia, announced a global ...
Case Report Describes Successful Treatment of JEB with Terrasil Ointment
August 27, 2018August 27, 2018
Treatment with a wound care ointment called Terrasil reduced pain, itching, and blistering in ...
Austrian Epidermolysis Bullosa Patient Inspires Dad to Establish World’s First ‘EB House’
August 22, 2018August 22, 2018
FDA Grants Fast Track Status to Castle Creek’s CCP-020 for Treatment of EBS
August 13, 2018August 13, 2018
Joint Venture Plans to Advance Potential EB Therapy RGN-137 into Phase 3 Trial
August 8, 2018August 8, 2018
Amryt’s AP101 Granted Rare Pediatric Disease Designation for EB
August 6, 2018August 6, 2018

Blocking Inflammation-linked PI3K-Delta Molecule Could Lead to EBA Therapy, Mouse Study Suggests
August 1, 2018August 1, 2018
Treatment targeting a specific molecule involved in inflammation — called PI3K-delta — eased skin ...
Antibiotic Gentamicin May Benefit About 80% of Herlitz JEB Patients, Study Says
July 30, 2018July 30, 2018
Cord Blood Platelet Gel Holds Potential to Treat Epidermolysis Bullosa, Study Shows
July 25, 2018July 25, 2018
Debra’s Family-oriented EB Care Conference Kicks Off Sunday in Arizona
July 20, 2018July 20, 2018

Higher Levels of Granzyme B Play Key Role in EBA, Other Skin Blistering Diseases, Study Suggests
July 16, 2018July 16, 2018
An enzyme called granzyme B (GzmB) may be a key mediator of blistering in ...
Case Report Highlights Rare EBA Diagnosis in 21-Year-Old Patient
July 11, 2018July 11, 2018
Phase 1/2 Trial of DEB Therapy Candidate QR-313 Now Enrolling Patients, ProQR Announces
July 9, 2018July 9, 2018

News

Castle Creek Enrolls First Patient in Phase 1 Trial for CCP-020 as Treatment for EBS
June 27, 2018June 27, 2018
Castle Creek Pharmaceuticals recently enrolled its first patient in a Phase 1 clinical trial ...
News

2 New Mutations Found in Family with Epidermolysis Bullosa Pruriginosa, Case Study Reports
June 25, 2018June 25, 2018
Two new potentially damaging mutations were identified in a family with epidermolysis bullosa pruriginosa ...
News

Allogeneic Fibroblast Injections into Skin Lesions Are Safe, Effective for RDEB, Study Shows
June 18, 2018June 18, 2018
Allogeneic fibroblast injections are an effective and safe treatment strategy for non-healing wounds in ...
News

ProQR to Receive Up to $5 Million from Nonprofits to Develop QR-313 for DEB
June 13, 2018June 13, 2018
ProQR Therapeutics is partnering with the nonprofit organizations EB Research Partnership (EBRP) and EB Medical ...
Just Published, News

Serlopitant’s Potential to Manage Itch in EB Patients Shown in Exploratory Trial
June 6, 2018June 8, 2018
Menlo Therapeutics’ investigative therapy serlopitant seems to effectively reduce itch in patients with epidermolysis bullosa, ...
News

Abeona Opens Manufacturing Plant to Support EB-101, and Other Gene and Cell Therapy Candidates
June 4, 2018June 4, 2018
Abeona Therapeutics announced the opening of the Elisa Linton Center for Rare Disease Therapies, a ...

January 23, 2018January 23, 2018

Factors Beyond COL7A1 Mutations May Contribute to Dystrophic EB Forms, Study Suggests

News

A study from Spain has raised the possibility that the development of dystrophic epidermolysis bullosa (DEB) could be attributable to additional factors besides mutations in the COL7A1 gene. Researchers reached this conclusion after studying three unrelated patients with different forms of ... Read more

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